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GTR Home > Tests > Anauxetic dysplasia, 607095, Autosomal recessive; ANXD1 (Anauxetic dysplasia) (RMRP gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Aortic valve stenosis
  • Severe short stature
  • Fetal growth restriction
  • Hypertelorism
  • Partial congenital absence of teeth
  • Macroglossia
  • Hypotonia
  • Brachydactyly
  • Microdontia
  • Atlantoaxial dislocation
  • Barrel-shaped chest
  • Mandibular prognathia
  • Elbow flexion contracture
  • Hip contracture
  • Short neck
  • Global developmental delay
  • Cervical cord compression
  • Thoracic kyphosis
  • Lumbar hyperlordosis
  • Short toe
  • Delayed ossification of carpal bones
  • Short palm
  • Pointed chin
  • Short finger
  • Platyspondyly
  • Joint hypermobility
  • Cervical subluxation
  • Small epiphyses
  • Short foot
  • Flared metaphysis
  • J-shaped sella turcica
  • Hypoplastic ilia
  • Rhizomelia
  • Limited elbow extension
  • Intellectual disability
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Anauxetic dysplasia, 607095, Autosomal recessive; ANXD1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

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